A Quality Assessment of the ARM-Net Registry Design and Data Collection.

BACKGROUND: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience. MATERIAL AND METHODS: Design and data elements were assessed for completeness, consistency, usefulness, accuracy, validity, and comparability. An intra- and inter-user variability study was conducted through monitoring and re-registration of patients. User experience was assessed via a questionnaire on registration, design of registry, and satisfaction. RESULTS: We evaluated 119 data elements, of which 107 were utilized and comprised 42 string and 65 numeric elements. A minority (37.0%) of the 2278 included records had complete data, though this improved to 83.5% when follow-up elements were excluded. Intra-observer variability demonstrated 11.7% incongruence, while inter-observer variability was 14.7%. Users were predominantly pediatric surgeons and typically registered patients within 11-30 min. Users did not experience any significant difficulties with data entry and were generally satisfied with the registry, but preferred more longitudinal data and patient-reported outcomes. CONCLUSIONS: The ARM-Net registry presents one of the largest ARM cohorts. Although its collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are required to maintain relevant and high-quality data and to achieve long-term sustainability. With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. LEVEL OF EVIDENCE: V.

Reliability of Data Collected via Ecological Momentary Assessment on the Example of FeverApp Registry.

The FeverApp registry is an ambulant ecological momentary assessment (EMA) model registry focusing on research of fever in children. Verification of EMA reliability is a challenge, due to absence of other source data. To ensure the reliability of EMA data, 973 families were invited to reassess their documentation in a survey. The survey contained questions (a) regarding the number of children, (b) genuineness of entries, (c) completeness of submitted fever episodes, (d) medication, (e) usefulness and further usage of the app. Of those invited, 438 families (45% response rate) participated in the survey. Of these, 363 (83%) families have registered all their children, 208 families have one child. The majority (n = 325, 74.2%) of families stated that they only made genuine entries in the app. Agreement between survey and app for fever episodes is 90% (Cohen's κ = 0.75 [0.66, 0.82]). Medication shows 73.7% agreement, κ = 0.49 [0.42; 0.54]. The majority (n = 245, 55.9%) consider the app as an additional benefit and 87.3% would like to use it further. Email surveys are a possible approach to evaluate EMA based registry data. The possible observation units (children and fever episodes) show an adequate reliability. With this approach, surveys of further samples and variables could help to improve the quality of EMA based registries.

Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey.

Aim: Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted by different surgeons. The aim of this study was to evaluate the inter- and intraobserver variation in the assessment by pediatric surgeons of preoperative colostograms with respect to the level of the recto-urinary fistula. Materials and Methods: Sixteen pediatric surgeons from 14 European centers belonging to the ARM-Net Consortium twice scored 130 images of distal colostograms taken in sagittal projection at a median age of 66 days of life (range: 4-1,106 days). Surgeons were asked to classify the fistula in bulbar, prostatic, bladder-neck, no fistula, and "unclear anatomy" example. Their assessments were compared with the intraoperative findings (kappa) for two scoring rounds with an interval of 6 months (intraobserver variation). Agreement among the surgeons' scores (interobserver variation) was also calculated using Krippendorff's alpha. A kappa over 0.75 is considered excellent, between 0.40 and 0.75 fair to good, and below 0.40 poor. Surgeons were asked to score the images in "poor" and "good" quality and to provide their years of experience in ARM treatment. Results: Agreement between the image-based rating of surgeons and the intraoperative findings ranges from 0.06 to 0.45 (mean 0.31). Interobserver variation is higher (Krippendorff's alpha between 0.40 and 0.45). Years of experience in ARM treatment does not seem to influence the scoring. The mean intraobserver variation between the two rounds is 0.64. Overall, the quality of the images is considered poor. Images categorized as having a good quality result in a statistically significant higher kappa (mean: 0.36 and 0.37 in the first and second round, respectively) than in the group of bad-quality images (mean: 0.25 and 0.23, respectively). Conclusions: There is poor agreement among experienced pediatric colorectal surgeons on preoperative colostograms. Techniques and analyses of images need to be improved in order to generate a homogeneous series of patients and make comparison of outcomes reliable.

The FeverApp registry - ecological momentary assessment (EMA) of fever management in families regarding conformity to up-to-date recommendations.

BACKGROUND: Fever is one of the most common symptoms of pediatric consultations and its mismanagement is a health care burden. Guidelines on fever management are incoherent and data on fever management are still missing. This study protocol describes an app-based registry to evaluate the fever management of parents. OBJECTIVE: The primary objectives are to assess guideline adherence (primary outcome) and parental confidence in managing fever, and thus to reduce overuse of antipyretics, antibiotics and healthcare providers. Secondary objectives include creating a "FeverApp" that will enable parents to handle fever safely and to use the FeverApp registry as symptom and fever management diary. Further objectives include developing and testing a symptom-led registry model by app-based acquisition of parental entries of febrile illness cycle data and developing and testing models of how an interactive app-based registry can enable nationwide EMA information to inform science, guideline and policy makers, and the public. METHODS: A FeverApp, guiding parents and carers in handling and documenting fever, will be developed with family pediatricians according to current guidelines and recommended for all parents in Germany. A registry will anonymously document features, management and outcomes of febrile episodes: basic sociodemographic and medical information, initial symptoms, course of fever, pharmacological and non-pharmacological interventions, consultations with doctors, outcomes, fever-associated fears, and app satisfaction. RESULTS: This app may improve communication quality and health, e.g. asthma and antimicrobial resistance. Results will be published via website www.feverapp.de . TRIAL REGISTRATION: This app-based registry protocol is registered in the German Clinical Trials Register (DRKS) with registration number: DRKS00016591 .

Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany.

Introduction: Medical needs of adults with anorectal malformations (ARM) and the exstrophy-epispadias complex (EEC) are not fully understood. Therefore, the aim of the study was to evaluate how affected individuals get along with the current national medical care and what their medical or social long-term requirements are. Patients and Methods: Between 11/2014-07/2016 all adult members (≥18 years, ARM n = 113, EEC n = 126) of the German self-help organizations SoMA e.V. and Blasenekstrophie/Epispadie e.V. were contacted via email or post and asked to fill out an anonymous online questionnaire regarding medical requirements, treatment satisfaction, daily life impairment and expectations regarding physicians soft skills. The results were compared between both groups and male and female participants. Results: 56 participants with ARM (median age 26 years, IQR 19-38) and 52 participants with EEC (median age 31 years, IQR 22-37) filled in the questionnaire completely. Forty-five percent of the ARM and 67% of the EEC participants contacted an urologist. A general surgeon was visited by 23% of the ARM individuals, a peadiatric surgeon by 20%. Although 60% of the females with ARM and 82% of the females with EEC assessed gynecological counseling as helpful or neutral, a small subgroup of ARM females (n = 6, 16%; 70% non-isolated ARM or ARM with Hirschsprung disease and additional associated anomalies) were not satisfied. The majority of both groups reported no or only minor daily life impairment (p = 0.38). Professional knowledge, paying attention to patients' concerns, having empathy and taking enough time was important for over 90% of all participants. Thirty-eight percent of the ARM and 27% of the EEC individuals needed psychological support. Most medical consultations were judged to be helpful. Conclusion: Although adults with ARM and EEC being a self-help organization member and thus well informed and generally cope well, participants expressed their wish for expert counseling regarding family planning, reconstructive procedures, continence management, urological care and social welfare issues. Furthermore, specific expert consultations for gynecological issues in a subgroup of ARM females, mainly non-isolated, might be required. Actual needs of adults with rare conditions must be better clarified to improve medical care beyond childhood and adolescence.

Aversive tension in female adolescents with Anorexia Nervosa: a controlled ecological momentary assessment using smartphones.

BACKGROUND: Current models of Anorexia Nervosa (AN) emphasize the role of emotion regulation. Aversive tension, described as a state of intense arousal and negative valence, is considered to be a link between emotional events and disordered eating. Recent research focused only on adult patients, and mainly general emotion regulation traits were studied. However, the momentary occurrence of aversive tension, particularly in adolescents with AN, has not been previously studied. METHOD: 20 female adolescents with AN in outpatient treatment and 20 healthy adolescents aged 12 to 19 years participated in an ecological momentary assessment using their smartphones. Current states of aversive tension and events were assessed hourly for two consecutive weekdays. Mean and maximum values of aversive tension were compared. Multilevel analyses were computed to test the influence of time and reported events on aversive tension. The effect of reported events on subsequent changes of aversive tension in patients with AN were additionally tested in a multilevel model. RESULTS: AN patients showed higher mean and maximum levels of aversive tension. In a multilevel model, reported food intake was associated with higher levels of aversive tension in the AN group, whereas reported school or sport-related events were not linked to specific states of aversive tension. After food intake, subsequent increases of aversive tension were diminished and decreases of aversive tension were induced in adolescents with AN. CONCLUSIONS: Aversive tension may play a substantial role in the psychopathology of AN, particular in relation with food intake. Therefore, treatment should consider aversive tension as a possible intervening variable during refeeding. Our findings encourage further research on aversive tension and its link to disordered eating. TRIAL REGISTRATION: German register of clinical trials (DRKS): DRKS00005228 (Date of registration: September 2, 2013).

Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies.

PURPOSE: To determine the anorectal function in patients with anorectal malformations (ARM) in order to facilitate patient counseling and follow-up. METHODS: Data were collected by the German network for urorectal malformations (CURE-Net) according to the International Krickenbeck consensus. Questionnaires on bowel function and a defecation protocol were completed by the families/patients. The clinical findings were assessed from the patients' clinical records. RESULTS: Two hundred and ninety-seven patients with ARM were assessed, 175 patients gave complete data on continence, 52 of them were excluded due to mental retardation, age, and earlier type of pullthrough. Complete continence was found in 27 %, perineal fistula in 40 %, rectourethral/vesical in 10 %, vestibular in 24 %, cloaca in 0 %. Krickenbeck grade 1 soiling: 42 %, grade 2 and 3: 31 %. Forty-nine percent of the incontinent patients practiced bowel management, reaching continence in 19 %. The statement of constipation (67 %) was validated with the last clinical findings, showing coprostasis in 46 %, "Not suffering constipation" was confirmed in 61 % and falsified in 29 %. CONCLUSION: ARM patients in Germany, as assessed by independent researchers, show a high rate of fecal incontinence and insufficiently treated constipation. Parents should be counseled accordingly and motivated to engage in consequent follow-up. Intensified efforts in the conservative treatment of constipation and fecal incontinence are crucial to improvement.

Prevalence estimation of anorectal malformations using German diagnosis related groups system.

Without major registries, true prevalence of rare congenital diseases is not known. Estimations for occurrence of anorectal malformation (ARM) are based on monitoring centers and epidemiological studies. The new German economical system for payment of inpatient care (G-DRG) obligates the report of each hospitalization, including diagnoses and procedures. These codes and classifications originally developed for morbidity statistics are now misused for economical purposes. Is there an epidemiological use? We present a new method to estimate national wide prevalence rate of congenital malformations exemplarily for imperforated anus. Due to the new German DRG-system, treatment data collections of the years 2002-2005 are freely accessible. This method is applicable if a life saving surgery is mandatory for newborns and has to be ciphered by specific codes. Overall, in German hospitals 1,012 children below 1 year of age are surgically treated with a reconstructive anorectal surgery during the period of 4 years. In the same time 2,817,388 babies are born in Germany. Hence the national wide prevalence rate is about 3.6 (95% CI: 3.4-3.8) per 10,000 or 1:2,784 for all different types of anal atresia requiring surgery. Main ICD-10 diagnosis Q42 was given twice this rate, probably due to at least two hospitalizations in the newborn period. The economic data of the G-DRG system can be used to estimate yearly prevalence of some rare congenital diseases in Germany, in case of specific surgical procedures. It may be a useful supplement to smaller regional registries because of larger size. Further calculations for other epidemiological questions have to be faced.